ClinVar Miner

List of variants in gene DHCR7 reported as likely pathogenic

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Total variants: 93
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HGVS dbSNP
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.278C>T (p.Thr93Met) rs80338853
NM_001163817.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001163817.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001163817.2(DHCR7):c.932_933GT[1] (p.Val312fs) rs1469918162
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001360.2(DHCR7):c.1004del (p.Pro335fs) rs1555145646
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1080_1081del (p.Phe361fs) rs1057516517
NM_001360.2(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153
NM_001360.2(DHCR7):c.1090A>G (p.Thr364Ala) rs1085307925
NM_001360.2(DHCR7):c.111G>A (p.Trp37Ter) rs750345068
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1146C>A (p.Tyr382Ter) rs1555145605
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1199G>A (p.Trp400Ter) rs1057516493
NM_001360.2(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.1426T>A (p.Ter476Lys) rs775034584
NM_001360.2(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584
NM_001360.2(DHCR7):c.16C>T (p.Gln6Ter) rs1057516977
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.322-2A>G rs1555146618
NM_001360.2(DHCR7):c.326T>C (p.Leu109Pro) rs121912195
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.413-1G>A rs1057517307
NM_001360.2(DHCR7):c.413-2A>G rs775575609
NM_001360.2(DHCR7):c.429T>G (p.Tyr143Ter) rs1393186135
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.626+1G>C rs1471145742
NM_001360.2(DHCR7):c.626+1G>T rs1471145742
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.655T>C (p.Tyr219His) rs779896782
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.803del (p.Asn268fs) rs1555146023
NM_001360.2(DHCR7):c.804del (p.Asn268fs) rs1057516783
NM_001360.2(DHCR7):c.82C>T (p.Gln28Ter) rs756564881
NM_001360.2(DHCR7):c.831+2T>A rs1057516920
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.2(DHCR7):c.858G>A (p.Trp286Ter) rs1555145877
NM_001360.2(DHCR7):c.861C>A (p.Asn287Lys) rs766495775
NM_001360.2(DHCR7):c.862G>A (p.Glu288Lys) rs565893436
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.870G>A (p.Trp290Ter) rs774187452
NM_001360.2(DHCR7):c.874del (p.Tyr291_Leu292insTer) rs1555145874
NM_001360.2(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926
NM_001360.2(DHCR7):c.894C>A (p.Cys298Ter) rs769639753
NM_001360.2(DHCR7):c.895C>T (p.His299Tyr) rs745498103
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.2(DHCR7):c.915C>G (p.Tyr305Ter) rs1555145867
NM_001360.2(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.2(DHCR7):c.939G>A (p.Trp313Ter) rs1555145862
NM_001360.2(DHCR7):c.952del (p.Tyr318fs) rs1555145859
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.963+2T>G rs1057517070
NM_001360.2(DHCR7):c.981C>A (p.Tyr327Ter) rs1057516375
NM_001360.2(DHCR7):c.99-1G>C rs1451108193
NM_001360.2(DHCR7):c.991C>T (p.Gln331Ter) rs1057516610
NM_001360.2(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter) rs1591107421
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr) rs770819693
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter) rs140791666
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs) rs1591107062
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360.3(DHCR7):c.98+2_98+6del

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